A novel small molecule approach for the treatment of propionic and methylmalonic acidemias

Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA) are inborn errors of metabolism affecting the catabolism of valine, isoleucine, methionine, threonine and odd-chain fatty acids. These are multi-organ disorders caused by the enzymatic deficiency of propionyl-CoA carboxylase (PCC) or methylmal...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Molecular genetics and metabolism Ročník 133; číslo 1; s. 71 - 82
Hlavní autoři:	Armstrong, Allison J., Collado, Maria Sol, Henke, Brad R., Olson, Matthew W., Hoang, Stephen A., Hamilton, Christin A., Pourtaheri, Taylor D., Chapman, Kimberly A., Summar, Marshall M., Johns, Brian A., Wamhoff, Brian R., Reardon, John E., Figler, Robert A.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Elsevier Inc 01.05.2021
Témata:	Acyl Coenzyme A - metabolism Amino Acid Metabolism, Inborn Errors - drug therapy Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Metabolism, Inborn Errors - pathology Carnitine - metabolism Cell Line Citrates - metabolism Hepatocytes - drug effects Humans Methylmalonic acidemia Methylmalonyl-CoA Decarboxylase - genetics Methylmalonyl-CoA Mutase - deficiency Methylmalonyl-CoA Mutase - genetics Propionic acidemia Propionic Acidemia - drug therapy Propionic Acidemia - genetics Propionic Acidemia - pathology Small Molecule Libraries - pharmacology Methylmalonic acidemia Propionic acidemia
ISSN:	1096-7192, 1096-7206, 1096-7206
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Buďte první, kdo okomentuje tento záznam!